SCA32
MCID: SPN259
MIFTS: 18

Spinocerebellar Ataxia 32 (SCA32)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 32

MalaCards integrated aliases for Spinocerebellar Ataxia 32:

Name: Spinocerebellar Ataxia 32 57 13 72
Sca32 57 59
Cerebellar Ataxia with Azoospermia and Intellectual Disability 59
Spinocerebellar Ataxia Type 32 59

Characteristics:

Orphanet epidemiological data:

59
spinocerebellar ataxia type 32
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
broad range of onset, particularly among females
one chinese family has been reported with limited clinical information (last curated april 2011)


HPO:

32
spinocerebellar ataxia 32:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.8
Orphanet 59 ORPHA276183
MedGen 42 C3151343
UMLS 72 C3151343

Summaries for Spinocerebellar Ataxia 32

OMIM : 57 Spinocerebellar ataxia-32 (SCA32) is an autosomal dominant neurologic disorder characterized by ataxia, variable mental impairment, and azoospermia in males (summary by Jiang et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (613909)

MalaCards based summary : Spinocerebellar Ataxia 32, is also known as sca32, and has symptoms including cerebellar ataxia Affiliated tissues include brain, and related phenotypes are cognitive impairment and testicular atrophy

Related Diseases for Spinocerebellar Ataxia 32

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Spinocerebellar Ataxia Autosomal Recessive 5

Symptoms & Phenotypes for Spinocerebellar Ataxia 32

Human phenotypes related to Spinocerebellar Ataxia 32:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
2 testicular atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000029
3 azoospermia 59 32 frequent (33%) Frequent (79-30%) HP:0000027
4 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
5 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
6 male infertility 59 32 frequent (33%) Frequent (79-30%) HP:0003251
7 ataxia 32 HP:0001251
8 infertility 32 HP:0000789

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
testicular atrophy
azoospermia
infertility
absence of germ cells and progenitors seen on biopsy

Neurologic Central Nervous System:
cerebellar atrophy
cerebellar ataxia
cognitive impairment in individuals with onset before age 40

Clinical features from OMIM:

613909

UMLS symptoms related to Spinocerebellar Ataxia 32:


cerebellar ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia 32

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 32

Genetic Tests for Spinocerebellar Ataxia 32

Anatomical Context for Spinocerebellar Ataxia 32

MalaCards organs/tissues related to Spinocerebellar Ataxia 32:

41
Brain

Publications for Spinocerebellar Ataxia 32

Articles related to Spinocerebellar Ataxia 32:

# Title Authors PMID Year
1
RNA FISH for detecting expanded repeats in human diseases. 38
26615955 2016
2
Brain pathology of spinocerebellar ataxias. 38
22684686 2012

Variations for Spinocerebellar Ataxia 32

Expression for Spinocerebellar Ataxia 32

Search GEO for disease gene expression data for Spinocerebellar Ataxia 32.

Pathways for Spinocerebellar Ataxia 32

GO Terms for Spinocerebellar Ataxia 32

Sources for Spinocerebellar Ataxia 32

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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